Search Results - "Cheema, Huma"

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders by Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

“…Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). We…”
Get full text

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children by Cheema, Huma Arshad, Fayyaz, Zafar, Saeed, Anjum, Anjum, Muhammad Nadeem, Ijaz, Sadaqat, Alvi, Muhammad Arshad, Batool, Syeda Sara

“…Background/Aims: The purpose of this study was to identify the spectrum and frequency of pathogenic variants as well as the clinical and genetic insight of…”
Get full text

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis by Zubaida, Bibi, Hashmi, Muhammad Almas, Cheema, Huma Arshad, Naeem, Muhammad

“…Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase ( β -Gal) encoded by galactose beta…”
Get full text

Unusual case of Juvenile Tay-Sachs disease by Cheema, Huma A, Waheed, Nadia, Saeed, Anjum

“…Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition…”
Get full text

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility by Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt

“…We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical…”
Get full text

Celiac disease in children by Saeed, Anjum, Assiri, Asaad, Cheema, Huma

“…Celiac disease (CD) is a chronic enteropathy due to ingestion of gluten and related products leading to villous injury and its various manifestations. It has a…”
Get full text

Berardinelli-Seip Congenital Generalised Lipodystrophy by Cheema, Huma Arshad, Malik, Hassan Suleman, Waheed, Nadia, Mushtaq, Iqra, Fayyaz, Zafar, Anjum, Mohammad Nadeem

“…Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five…”
Get full text

Is Hepatovenocaval Syndrome a Different Entity from Budd-Chiari Syndrome in Children? by Waheed, Nadia, Cheema, Huma Arshad, Suleman, Hassan, Mushtaq, Iqra, Fayyaz, Zafar, Anjum, Nadeem

“…To differentiate between clinical and demographic spectrum, and outcome in hepatovenocaval syndrome (HVCS) and Budd-Chiari syndrome (BCS). Descriptive study…”
Get full text

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study by Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

“…Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the gene, encoding glucocerebrosidase. Deficiency of this…”
Get full text

The mutational landscape of genetic cholestatic diseases in Pakistani children by Cheema, Huma Arshad, Waheed, Nadia, Saeed, Anjum, Anjum, Muhammad Nadeem, Fayyaz, Zafar, Ijaz, Sadaqat

“…Objective: To report the mutational landscape of a clinically diagnosed cohort of paediatric patients with cholestasis liver diseases. Method: The…”
Get full text

CLINICAL PRESENTATION, AETIOLOGY AND COMPLICATIONS OF PANCREATITIS IN CHILDREN by Fayyaz, Zafar, Cheema, Huma Arshad, Suleman, Hassan, Hashmi, Muhammad Almas, Parkash, Arit, Waheed, Nadia

“…Childhood Pancreatitis is an uncommon but serious condition with incidence on the rise. It manifests as acute or chronic form with epigastric pain, vomiting…”
Get more information

SEROLOGICAL VERUS HISTOLOGICAL DIAGNOSIS IN PEDIATRIC CELIAC DISEASE: IS THERE A NEED FOR SMALL BOWEL BIOPSY? by Anwar, Aftab, Huma Arshad Cheema, Anjum Saeed

“…ABSTRACT Objective: To evaluate the role of tissue transglutaminase IgA antibody (TTG IgA Ab) in diagnosis of pediatric celiac disease (CD) taking small bowel…”
Get full text

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families by Ijaz, Sadaqat, Zahoor, Muhammad Yasir, Imran, Muhammad, Ramzan, Khushnooda, Bhinder, Munir Ahmad, Shakeel, Hussain, Iqbal, Muhammad, Aslam, Asim, Shehzad, Wasim, Cheema, Huma Arshad, Rehman, Habib

“…Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic…”
Get more information

Rare presentation of haemobilia and Loeffler’s pneumonia in a child by ascaris lumbricoides by Cheema, Huma Arshad, Waheed, Nadia, Saeed, Anjum

“…Ascariasis is a soil-sourced, second most common parasitic infection worldwide. Because of its wandering nature, it migrates from the intestine to other organs…”
Get full text

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients by Cheema, Huma Arshad, Rasool, Iqra Ghulam, Anjum, Muhammad Nadeem, Zahoor, Muhammad Yasir

“…Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. We sequenced the gene including its all coding and…”
Get full text

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children by Cheema, Huma Arshad, Waheed, Nadia, Saeed, Anjum, Fayyaz, Zafar, Anjum, Muhammad Nadeem, Alvi, Muhammad Arshad, Batool, Syeda Sara

“…To explore the spectrum of presentation, underlying monogenetic defects and outcome in very early onset inflammatory bowel disease (VEO-IBD). The prospective,…”
Get full text

PHENOTYPIC AND GENOTYPIC CHARACTERISTICS OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 IN PEDIATRIC POPULATION IN PAKISTAN by Ali, Muhammad, Cheema, Huma Arshad, Alvi, Muhammad Arshad, Waheed, Nadia, ., Imran, Anjum, Muhammad Nadeem

“…OBJECTIVE: To determine the phenotypic and genotypic characteristics of progressive familial intrahepatic cholestasis (PFIC) type 3 in Pakistani children in a…”
Get full text

Etiological and Clinical Spectrum of Acute Liver Failure of Infancy in Pakistan by Sarwar, Hussan Ali, Cheema, Huma Arshad, Anwar, Aftab, Batool, Sara, Saeed, Anjum, Anjum, Nadeem

“…  Objective: To describe the aetiology and clinical spectrum of acute liver failure of infancy at a tertiary care hospital Study Design: Cross-sectional study…”
Get full text

Assessment of Quality of Life Among Children with Inflammatory Bowel Disease by Rehman, Hooria, Cheema, Huma Arshad, Alvi, Muhammad Arshad, Anjum, Muhammad Nadeem, Fayyaz, Zafar, Batool, Syeda Sara, Saeed, Anjum

“…Objective: To evaluate the quality of life among children with inflammatory bowel disease (IBD) by the inflammatory bowel disease questionnaire. Study Design:…”
Get full text

ETIOLOGY AND PATTERN OF PRESENTATION OF GASTRITIS IN CHILDREN, OUR EXPERIENCE AT A TERTIARY CARE HOSPITAL by Shahzadi, Nagina, Cheema, Huma Arshad, Saeed, Anjum, Malik, Hassan Suleman, Waheed, Nadia

“…Objective: This study aimed to look in to the frequency of different causes and pattern of presentation of gastritis in children less than 16 years of…”
Get full text